Retinal Changes in Poretti - Boltshauser Syndrome: Retina as a Window to The Brain.

Purpose: LAMA 1 gene as a pathologic variant leading to cerebellar dysplasia and cysts, non-progressive ataxia, language, and motor developmental delay without any muscular involvement was recently described as Poretti-Boltshauser Syndrome (PBS). Ocular involvement is a common associated feature in this neurodegenerative disorder. In this case report, we describe the retinal changes associated with PBS.

Methods, patient, and results: A four-year-old female child presented with the progressive decreased vision for the past 6-8 months. Ophthalmic examination revealed mild myopia, ocular motor apraxia with retinal disruptions appearing as holes that were confined only to inner retinal layers. The child also had motor and speech developmental delays. Magnetic resonance imaging (MRI) of the brain showed vermis hypoplasia with cerebellar dysgenesis and multiple cystic spaces in both cerebellar hemispheres. Whole exome sequencing revealed a homozygous pathogenic variant of exon 2-63 deletion in the LAMA 1 gene which was confirmatory for Poretti - Boltshauser Syndrome.

Conclusion: Oculomotor apraxia and retinal changes can lead to visual disturbances in PBS. Identification of these features and prompt rehabilitative measures can improve the quality of life of these children.